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Mostrando ítems 1-4 de 4

A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration

Lopez del Amo, V; Palomino-Schätzlein, Martina; Seco-Cervera, Marta; Garcia-Gimenez, José Luis; Pallardó-Calatayud, Federico V.; Pineda-Lucena, Antonio; Galindo-Orozco, Máximo Ibo (Elsevier, 2017)

[EN] Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 ...
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Sancho, Paula; Bartesaghi, Luca; Miossec, Olivia; García-García, Francisco; Ramírez-Jiménez, Laura; Siddell, Anna; Ajkesson, Elisabet; Hedlund, Eva; Lassuthova, Petra; Pascual-Pascual, Samuel I.; Sevilla, Teresa; Kennerson, Marina; Lupo, Vincenzo; Chrast, Roman; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2019-05-15)

[EN] Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal ...
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Estelle Arnaud Gouttenoire; Lupo,V; Calpena-Corpas, Eduardo; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer; Jacques S Beckmann; Jan Senderek; Palau, Francesc; Espinós-Armero, Carmen Ángeles; Roman Chrast (John Wiley & Sons, 2013-07)

[EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral ...
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

Calpena-Corpas, Eduardo; Lopez del Amo, V; Chakraborty M; Llamusi, B; Artero R; Espinos, Carmen; Galindo, Máximo Ibo (The Company of Biologists, 2018-01)

[EN] Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) ...

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Listar por Patrocinador "Association Française contre les Myopathies"

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Listar por Patrocinador "Association Française contre les Myopathies"